Variant report

Variant	rs7293008
Chromosome Location	chr22:29442666-29442667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29436460..29439991-chr22:29442261..29446083,4	MCF-7	breast:
2	chr22:29195630..29197790-chr22:29440698..29444304,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs41341948	0.81[MKK][hapmap]
rs56828081	1.00[AMR][1000 genomes]
rs57164857	0.86[AFR][1000 genomes]
rs5762923	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5762929	0.81[MKK][hapmap]
rs7287755	0.81[MKK][hapmap];1.00[AMR][1000 genomes]
rs7292513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8141624	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427400-29448400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
3	chr22:29428800-29443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29429000-29444000	Weak transcription	Right Ventricle	heart
5	chr22:29436800-29443800	Weak transcription	Hela-S3	cervix
6	chr22:29436800-29445600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:29437200-29443000	Weak transcription	K562	blood
8	chr22:29437200-29443200	Weak transcription	Brain Angular Gyrus	brain
9	chr22:29437200-29443800	Weak transcription	Fetal Heart	heart
10	chr22:29437200-29450800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:29437800-29448800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:29437800-29450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29438000-29442800	Weak transcription	Fetal Brain Male	brain
14	chr22:29438000-29447200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:29438200-29447400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:29438400-29449800	Strong transcription	Fetal Stomach	stomach
17	chr22:29438400-29451800	Strong transcription	Fetal Intestine Small	intestine
18	chr22:29438600-29445400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:29438600-29445600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr22:29439000-29447400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:29439000-29447400	Strong transcription	Fetal Intestine Large	intestine
22	chr22:29439000-29447400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr22:29439000-29449800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:29439000-29450200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:29439200-29445400	Strong transcription	Fetal Muscle Leg	muscle
26	chr22:29439200-29447000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:29439200-29447400	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr22:29439200-29447400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:29439200-29447400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:29439200-29447400	Strong transcription	Pancreas	Pancrea
31	chr22:29439200-29447600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr22:29439200-29447600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:29439400-29447000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:29439400-29447400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:29439400-29448400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:29439400-29448400	Strong transcription	Brain Anterior Caudate	brain
37	chr22:29439600-29444600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:29439600-29444800	Strong transcription	Left Ventricle	heart
39	chr22:29439600-29445200	Strong transcription	Fetal Kidney	kidney
40	chr22:29440000-29445400	Strong transcription	Fetal Lung	lung
41	chr22:29440000-29446400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:29440000-29447400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr22:29440000-29447400	Strong transcription	Spleen	Spleen
44	chr22:29440000-29447600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr22:29440000-29451400	Weak transcription	Fetal Thymus	thymus
46	chr22:29440200-29448800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:29440400-29447000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr22:29440400-29447400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr22:29440400-29447400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:29440600-29445200	Strong transcription	Placenta	Placenta

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